Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125677 | SCV000169139 | benign | not specified | 2013-09-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000125677 | SCV000305204 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002055590 | SCV002414360 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV002055590 | SCV004016183 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing |